TABLE 2.
Genes linked to human eye disorders.
| Sl. no | Disease | Gene/Variant |
| 1 | Retinitis pigmentosa | MERTK, RPGR, PDE6B, PRPF3, HK1, RHO, AGBL5, etc. |
| 2 | Stargardt’s disease | ABCA4, etc. |
| 3 | Inherited optic neuropathies | OPA1, RPE65, Complex I, ND1, ND4 or ND6 genes, etc. |
| 4 | Achromatopsia | CNGB3, CNGA3, GNAT2, PDE6C, PDE6H |
| 5 | AMD | ABCR/ABCA4, CFH†, CST3, ERCC6, FBLN5, NOS2A, CFH, CF, C2, C3, CFB, HTRA1/LOC, MMP-9, TIMP-3, SLC16A8, FBLN6 (HMCN1), HTRA1†, LOC387715/ARMS2, RAXL1, TLR4, ERCC6, FBLN5, HMCN1, HTRA1, RAX2, etc. |
| 6 | Leber congenital amaurosis type 10 (LCA10) | CEP290 |
| 7 | Leber congenital amaurosis type 2 (LCA2) | RPE65 |
| 8 | X-linked retinoschisis | RS1 |
| 9 | Glaucoma | CALM2, MPP-7, Optineurin, LOX1, CYP1B1, CAV1/2, MYOC, PITX2, FOXC1, PAX6, CYP1B1, LTBP2, etc. |
| 10 | Cataract | GEMIN4, CYP51A1, RIC1, TAPT1, TAF1A, WDR87, APE1, MIP, Cx50/GJA3 & 8, CRYAA, CRYBB2, PRX, POLR3B, XRCC1, ZNF350, EPHA2, etc. |
| 11 | Marfan syndrome | FBN1, TGFBR2, MTHFR, MTR, MTRR, etc. |
| 12 | Myopia | HGF, C-MET, UMODL1, MMP-1/2, PAX6, CBS, MTHFR, IGF-1, UHRF1BP1L, PTPRR, PPFIA2, P4HA2, etc. |
| 13 | Diabetic retinopathy | AKR1B1 (ALR2), a2b1 integrin gene, bFGF, EPO, HFE, Mn-SOD, IGF-I, ICAM-1, PON1, PPARGC1, UCP2, etc. |
| 14 | Usher syndrome | MYO7A |
| 15 | Uveal melanoma | PTEN, BAP1, GNAQ, GNA11, DDEF1, SF3B1, EIF1AX, CDKN2A, p14ARF, HERC2/OCA2, etc. |
| 16 | Choroideremia | CHM |
| 17 | Polypoidal choroidal vasculopathies | C2, C3, CFH, SERPING1, PEDF, LOC387715, CETP, ARMS2-HTRA1, FGD6, ABCG1, etc. |